MCID: BLD053
MIFTS: 56

Blood Platelet Disease

Categories: Blood diseases, Bone diseases, Immune diseases

Aliases & Classifications for Blood Platelet Disease

MalaCards integrated aliases for Blood Platelet Disease:

Name: Blood Platelet Disease 12 15 74
Blood Platelet Disorders 77 45 74
Platelet Disorder 12 77 56
Platelet Dysfunction 56 74
Thrombocytopathy 12 77
Qualitative Platelet Deficiency 74
Platelet Disorders 44

Classifications:



External Ids:

Disease Ontology 12 DOID:2218
MeSH 45 D001791
SNOMED-CT 69 22716005

Summaries for Blood Platelet Disease

MedlinePlus : 44 Platelets, also known as thrombocytes, are small pieces of blood cells. They form in your bone marrow, a sponge-like tissue in your bones. Platelets play a major role in blood clotting. Normally, when one of your blood vessels is injured, you start to bleed. Your platelets will clot (clump together) to plug the hole in the blood vessel and stop the bleeding. You can have different problems with your platelets: If your blood has a low number of platelets, it is called thrombocytopenia. This can put you at risk for mild to serious bleeding. The bleeding could be external or internal. There can be various causes. If the problem is mild, you may not need treatment. For more serious cases, you may need medicines or blood or platelet transfusions. If your blood has too many platelets, you may have a higher risk of blood clots. When the cause is not known, this is called thrombocythemia. It is rare. You may not need treatment if there are no signs or symptoms. In other cases, people who have it may need treatment with medicines or procedures. If another disease or condition is causing the high platelet count, it is thrombocytosis. The treatment and outlook for thrombocytosis depends on what is causing it. Another possible problem is that your platelets do not work as they should. For example, in von Willebrand Disease, your platelets cannot stick together or cannot attach to blood vessel walls. This can cause excessive bleeding. There are different types of in von Willebrand Disease; treatment depends on which type you have. NIH: National Heart, Lung, and Blood Institute

MalaCards based summary : Blood Platelet Disease, also known as blood platelet disorders, is related to myh-9 related disease and gray platelet syndrome, and has symptoms including angina pectoris, edema and chest pain. An important gene associated with Blood Platelet Disease is VWF (Von Willebrand Factor), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. The drugs Heparin and Dalteparin have been mentioned in the context of this disorder. Affiliated tissues include bone, myeloid and bone marrow, and related phenotypes are no effect and hematopoietic system

Wikipedia : 77 Platelets, also called thrombocytes (from Greek θρόμβος, "clot" and κύτος, "cell"), are a component of... more...

Related Diseases for Blood Platelet Disease

Diseases related to Blood Platelet Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 235)
# Related Disease Score Top Affiliating Genes
1 myh-9 related disease 32.1 GP1BA MYH9
2 gray platelet syndrome 32.1 GP5 GP9 SELP VWF
3 factor v deficiency 32.0 F10 F2 F3 F8 VWF
4 bernard-soulier syndrome 31.7 F2 F2R F8 GP1BA GP1BB GP5
5 thrombocytosis 31.4 F2 F3 MPL SELP SERPINC1 THPO
6 purpura 31.0 ADAMTS13 F2 F3 GP1BB ITGA2B ITGB3
7 thrombocytopenia 30.5 ADAMTS13 F3 GP1BA GP1BB GP9 ITGA2B
8 hemophilia 30.5 F2 F3 F8 VWF
9 factor viii deficiency 30.4 F2 F8 VWF
10 marantic endocarditis 30.3 F2 F3 SERPINC1
11 hemophilia a 30.3 F10 F3 F8 VWF
12 thrombophilia 30.1 F2 F3 F8 SERPINC1 VWF
13 acquired von willebrand syndrome 30.1 F8 GP1BA VWF
14 bleeding disorder, platelet-type, 16 29.9 ITGA2B ITGB3
15 megakaryocytic leukemia 29.9 ITGA2B PF4 RUNX1 THPO VWF
16 polycythemia vera 29.9 ITGB3 MPL PF4 SELP THPO
17 von willebrand's disease 29.9 ADAMTS13 F2 F3 F8 GP1BA SELP
18 thrombasthenia 29.8 F2 F3 GP1BA GP9 ITGA2B ITGB3
19 liver cirrhosis 29.6 F2 F3 SERPINC1 THPO
20 pre-eclampsia 29.6 F2 F3 SELP SERPINC1 VWF
21 thrombocytopenic purpura, autoimmune 29.4 GP1BA ITGA2B ITGB3 MPL SELP THPO
22 thrombocytopenia due to platelet alloimmunization 29.3 GP9 ITGA2B ITGB3 MPL MYH9 SELP
23 glanzmann thrombasthenia 29.0 F2 F2R F3 F8 GP1BA GP9
24 thrombosis 28.6 ADAMTS13 F10 F2 F3 F8 GP1BA
25 quebec platelet disorder 12.6
26 platelet disorder, familial, with associated myeloid malignancy 12.6
27 ehlers-danlos syndrome with platelet dysfunction from fibronectin abnormality 12.3
28 platelet disorder, undefined 12.1
29 thrombocytopenia with beta-thalassemia, x-linked 12.1
30 cytosolic phospholipase-a2 alpha deficiency associated bleeding disorder 11.3
31 ehlers-danlos syndrome, fibronectinemic type 11.2
32 arthrogryposis, renal dysfunction, and cholestasis 1 11.1
33 schlegelberger grote syndrome 11.1
34 bleeding disorder, platelet-type, 17 11.1
35 arthrogryposis, renal dysfunction, and cholestasis 2 11.0
36 bleeding disorder, platelet-type, 18 11.0
37 bleeding disorder, platelet-type, 19 11.0
38 bleeding disorder, platelet-type, 20 11.0
39 bleeding disorder, platelet-type, 21 11.0
40 hermansky-pudlak syndrome 11.0
41 stormorken syndrome 11.0
42 fainting 10.5 F8 VWF
43 cerebral arteritis 10.5 F8 VWF
44 prothrombin deficiency 10.4 F2 F3
45 acquired hemophilia a 10.4 F3 F8
46 grange syndrome 10.4 F3 SELP VWF
47 thrombocytopenia 3 10.4 MPL THPO
48 hemarthrosis 10.4 F10 F8 VWF
49 bombay phenotype 10.4 ADAMTS13 VWF
50 brachydactyly, type d 10.4 F2 F8 VWF

Graphical network of the top 20 diseases related to Blood Platelet Disease:



Diseases related to Blood Platelet Disease

Symptoms & Phenotypes for Blood Platelet Disease

UMLS symptoms related to Blood Platelet Disease:


angina pectoris, edema, chest pain

GenomeRNAi Phenotypes related to Blood Platelet Disease according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 ADAMTS13 F10 F2 F2R F3 F8

MGI Mouse Phenotypes related to Blood Platelet Disease:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.21 ADAMTS13 F2 F2R F3 F8 GP1BA
2 homeostasis/metabolism MP:0005376 10.13 ADAMTS13 F10 F2 F2R F3 F8
3 cardiovascular system MP:0005385 10.11 F10 F2 F2R F3 ITGA2B ITGB3
4 embryo MP:0005380 9.97 F2 F2R F3 ITGA2B ITGB3 MPL
5 immune system MP:0005387 9.8 ADAMTS13 F2 F2R F3 F8 ITGA2B
6 mortality/aging MP:0010768 9.44 ADAMTS13 F10 F2 F2R F3 F8

Drugs & Therapeutics for Blood Platelet Disease

Drugs for Blood Platelet Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 432)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Heparin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 9005-49-6 46507594 772
2
Dalteparin Approved Phase 4,Phase 3,Phase 2 9005-49-6
3 Certoparin Approved, Investigational Phase 4
4
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2 50-02-2 5743
5
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2 1177-87-3
6
Oprelvekin Approved, Investigational Phase 4,Phase 2,Phase 3 145941-26-0
7
rituximab Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 174722-31-7 10201696
8
Hydroxychloroquine Approved Phase 4,Phase 3 118-42-3 3652
9
Azathioprine Approved Phase 4,Phase 3,Not Applicable 446-86-6 2265
10
Prednisone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1 53-03-2 5865
11
Prednisolone phosphate Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 302-25-0
12
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 50-24-8 5755
13
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 83-43-2 6741
14
Methylprednisolone hemisuccinate Approved Phase 4,Phase 3,Phase 2,Not Applicable 2921-57-5
15
Clarithromycin Approved Phase 4,Phase 2,Phase 3 81103-11-9 84029
16
Dexlansoprazole Approved, Investigational Phase 4 138530-94-6, 103577-45-3 9578005
17
Amoxicillin Approved, Vet_approved Phase 4,Phase 2,Phase 3 26787-78-0 33613
18
Lansoprazole Approved, Investigational Phase 4 103577-45-3 3883
19
Benzocaine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 1994-09-7, 94-09-7 2337
20
tannic acid Approved Phase 4,Phase 3,Phase 2,Phase 1 1401-55-4
21
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 22916-47-8 4189
22
Thrombin Approved, Investigational Phase 4,Phase 3,Phase 2
23
Argatroban Approved, Investigational Phase 4,Phase 3,Phase 2 74863-84-6 152951
24
Hydroxyurea Approved Phase 4,Phase 3,Phase 2,Not Applicable 127-07-1 3657
25
Anagrelide Approved Phase 4,Phase 3,Phase 2 68475-42-3 2182
26
Vincristine Approved, Investigational Phase 4,Phase 2,Phase 3 2068-78-2, 57-22-7 5978
27
Bivalirudin Approved, Investigational Phase 4,Phase 3 128270-60-0 16129704
28
Fludarabine Approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1 75607-67-9, 21679-14-1 30751
29
Vidarabine Approved, Investigational Phase 4,Phase 3,Phase 2 24356-66-9 21704 32326
30
Sirolimus Approved, Investigational Phase 4,Phase 2,Phase 1 53123-88-9 46835353 5284616 6436030
31
Everolimus Approved Phase 4,Phase 2,Phase 1 159351-69-6 70789204 6442177
32
Fondaparinux Approved, Investigational Phase 4,Phase 2,Phase 1 104993-28-4
33
Dimethyl sulfoxide Approved, Vet_approved Phase 4,Phase 1 67-68-5 679
34
Lepirudin Approved Phase 4 138068-37-8, 120993-53-5 16132441
35
Ribavirin Approved Phase 4,Phase 2,Phase 3 36791-04-5 37542
36
Atorvastatin Approved Phase 4,Phase 1,Phase 2 134523-00-5 60823
37
Desirudin Approved Phase 4 120993-53-5
38
Calcium Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 7440-70-2 271
39
Serine Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 56-45-1 5951
40
Caffeic acid Experimental, Investigational Phase 4,Phase 3 331-39-5, 501-16-6 1549111
41
Prednisolone hemisuccinate Experimental Phase 4,Phase 3,Phase 2,Not Applicable 2920-86-7
42 calcium heparin Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
43 Immunoglobulins Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
44 Fibrinolytic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
45 Heparin, Low-Molecular-Weight Phase 4,Phase 3,Phase 2
46 Antibodies Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
47 Anticoagulants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
48 Calcium, Dietary Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
49 glucocorticoids Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1
50 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1

Interventional clinical trials:

(show top 50) (show all 834)
# Name Status NCT ID Phase Drugs
1 The HIT-TRAP Trial Unknown status NCT00196417 Phase 4 Standard heparin (UFH) versus certoparin (LMWH)
2 Caffeic Acid Combining High-dose Dexamethasone in Management of ITP Unknown status NCT02556814 Phase 4 Caffeic acid tablets;Dexamethasone;placebo
3 Study of Safety and Efficacy of Antihemophilic Factor/Von Willebrand Factor Complex in Surgical Subjects With Von Willebrand Disease (vWD) Completed NCT00168090 Phase 4 Blood coagulation Factor VIII and vWF, human
4 Effect of rhIL-11 in Patients With Thrombocytopenia for Childhood ALL Completed NCT02314273 Phase 4 rhIL-11
5 Efficacy and Safety of rhTPO for the Treatment of Thrombocytopenia After Chemotherapy in AML Patients Completed NCT02267993 Phase 4 recombinant human thrombopoietin
6 Evaluation of the Efficacy of Platelets Treated With Pathogen Reduction Process Completed NCT01789762 Phase 4
7 Exploratory Phase II Study of INC424 Patients With Primary Myelofibrosis (PMF) or Post Polycythaemia Myelofibrosis (PPV MF) or Post Essential Thrombocythaemia Myelofibrosis (PET-MF) Completed NCT01558739 Phase 4 INC424
8 Study to Reveal if Fibrinogen Treatment Effects Blood Clotting Better Than a Platelet Transfusion Completed NCT01955811 Phase 4 Administration of platelet concentrate and taking blood samples
9 Evaluation of Argatroban Injection in Pediatric Patients Requiring Anticoagulant Alternatives to Heparin Completed NCT00039858 Phase 4 Argatroban
10 A Study of Anagrelide and Hydroxyurea in High-Risk Essential Thrombocythemia Patients Completed NCT00202644 Phase 4 Anagrelide;Hydroxyurea
11 The Study of Different Dose Rituximab in the Treatment of ITP Completed NCT03258866 Phase 4 Rituximab;Rituximab
12 Reposition of Second Line Treatment in Chronic Immune Thrombocytopenia Completed NCT03229746 Phase 4 Hydroxychloroquine;vincristine;azathioprine
13 Study on Bone Marrow Morphology in Adults Receiving Romiplostim for Treatment of Thrombocytopenia Associated With Immune Thrombocytopenia Purpura (ITP) Completed NCT00907478 Phase 4
14 Study of Voncento® in Subjects With Von Willebrand Disease Completed NCT02552576 Phase 4
15 Severe Aortic Stenosis and Acquired Von Willebrand´s Disease: The Impact of Desmopressin in Valve-Replacement Surgery Completed NCT01994330 Phase 4 desmopressin
16 A Safety Study of Intravenous Immunoglobulin in Patients With Chronic Immune Thrombocytopenic Purpura (ITP) Completed NCT01390649 Phase 4
17 High-dose Dexamethasone Versus Conventional Dose Prednisone for Initial Treatment of Primary Immune Thrombocytopenia (ITP) Completed NCT01356511 Phase 4 Prednisone;Dexamethasone
18 A Longitudinal 2-year Bone Marrow Study of Eltrombopag in Previously Treated Adults, With Chronic Immune (Idiopathic) Thrombocytopenic Purpura (ITP) Completed NCT01098487 Phase 4 Eltrombopag olamine
19 Bivalirudin PCI Registry in Heparin Induced Thrombocytopenia/Heparin Induced Thrombocytopenia and Thrombosis Syndrome (HIT/HITTS) Patients Completed NCT00759083 Phase 4 bivalirudin
20 Platelet Function in Idiopathic Thrombocytopenic Purpura (ITP) Patients With Eltrombopag Completed NCT00888901 Phase 4 eltrombopag;corticosteroids (Aprednislon)
21 Helicobacter Pylori Infection in Children With Chronic Idiopathic Thrombocytopenic Purpura Completed NCT00467571 Phase 4 lansoprazole, clarithromycin, amoxycillin
22 A Study to Confirm the Efficacy and Safety of Fludarabine Phosphate Administered in Untreated Chronic Lymphocytic Leukemia Patients With Anemia and/or Thrombocytopenia Completed NCT00220311 Phase 4 Fludarabine Phosphate (Fludara)
23 High-dose Use of rhTPO in CIT Patients Recruiting NCT03633019 Phase 4 rhTPO
24 A Rollover Study to Provide Continued Treatment With Eltrombopag Recruiting NCT01957176 Phase 4 ELT
25 Anagre Cap. in Patients With High-Risk Essential Thrombocythemia Recruiting NCT03232177 Phase 4 Anagre Cap.
26 Efficacy and Safety of rhTPO and Eltrombopag in Patients With Primary Immune Thrombocytopenia (ITP) Recruiting NCT03771378 Phase 4 rhTPO;eltrombopag
27 Atorvastatin in Management of Newly Diagnosed ITP Recruiting NCT03692754 Phase 4 Atorvastatin 20mg;Atorvastatin 10mg
28 The Efficacy and Safety of Huaiqihuang Granule in Children With Chronic Primary Immune Thrombocytopenia Recruiting NCT03201848 Phase 4 Placebo;Huaiqihuang Granule
29 Immunomodulation With Romiplostim in Young Adults With ITP Recruiting NCT02760251 Phase 4 romiplostim
30 Efficacy and Safety of Fanhdi®, a High-purity Von Willebrand Containing FVIII Concentrate, in Pediatric Patients With Von Willebrand Disease Recruiting NCT02472665 Phase 4 plasma-derived FVIII/VWF concentrate
31 Study of Sirolimus in CTD-TP in China Active, not recruiting NCT03688191 Phase 4 Sirolimus
32 Thromboprophylaxis of Venous Thromboembolism in Acutely-ill Medical Inpatients With Thrombocytopenia Active, not recruiting NCT01727401 Phase 4 Fondaparinux
33 Eval. of Potential Predictors of Disease Progression in Patients With aHUS Including Genetics, Biomarkers and Treatment Active, not recruiting NCT02614898 Phase 4
34 Study Assessing an Algorithm-based Strategy of Eculizumab Discontinuation in Children and Adults With aHUS Active, not recruiting NCT02574403 Phase 4 eculizumab
35 Efficacy of Alphanate FVIII/VWF Concentrate in Type 3 Von Willebrand Patients Active, not recruiting NCT00555555 Phase 4
36 Study to Evaluate the Efficacy and Safety of PANZYGA in Pediatric Patients With Chronic Immune Thrombocytopenia (ITP) Not yet recruiting NCT03866798 Phase 4
37 Effects of Helicobacter Pylori Eradication in Children With Chronic Immune Thrombocytopenic Purpura Not yet recruiting NCT03172676 Phase 4 Amoxicillin 50 mg/kg/day in 2 divided doses for 14 days.;Clarithromycin 15 mg/kg/day in 2 divided doses for 14 days.;Proton pump inhibitor 1 mg/kg/day in 2 divided doses 1 month
38 Erythropoietin in Hemolytic Uremic Syndrome Not yet recruiting NCT03776851 Phase 4 erythropoietin
39 Does An Abnormal PFA 100 Predict Bleeding After Renal Biopsy? Terminated NCT00334204 Phase 4
40 Desmopressin as Treatment for Postoperative Bleeding After Cardiac Surgery Terminated NCT00885924 Phase 4 Desmopressin;Placebo
41 Protocol for the Infusion of Buffy Coat-derived Cryopreserved Platelets in Patients With Severe Thrombocytopenia Terminated NCT02032134 Phase 4
42 Argatroban Versus Lepirudin in Critically Ill Patients Terminated NCT00798525 Phase 4 Argatroban;Lepirudin
43 A Comparative Sudy Comparing Argatroban® IV vs Desirudin SC for Suspected HIT With or Without Thrombosis Syndrome Terminated NCT00787332 Phase 4 Desirudin or Argatroban®
44 Anti-D for Treating Thrombocytopenia in Adults Infected With Hepatitis C Virus With or Without HIV Co-Infection Terminated NCT00239733 Phase 4 Anti-D
45 Milk-only Lactation Study for Patients on Eltrombopag Withdrawn NCT01055600 Phase 4 eltrombopag
46 Fondaparinux in Patients With Acute Heparin-Induced Thrombocytopenia (HIT) Withdrawn NCT00603824 Phase 4 fondaparinux;argatroban or lepirudin
47 Different Cycles of High-dose Dexamethasone for Initial Management of Primary Immune Thrombocytopenia (ITP) Withdrawn NCT02642380 Phase 4 Dexamethasone (4 cycles);Dexamethasone (1 cycle)
48 Prophylactic Plasma Infusion Therapy for Congenital Thrombotic Thrombocytopenic Purpura Withdrawn NCT01754545 Phase 4 Octaplas infusion and placebo (group 1);Octaplas infusion and placebo (group 2)
49 Prospective Study of Patients With Thrombocytopenia Following HSCT Unknown status NCT02487563 Phase 3 decitabine;rhTPO
50 Megakaryocytic Progenitor Cells for Prophylaxis and Treatment of Thrombocytopenia Unknown status NCT02241031 Phase 2, Phase 3 thrombopoietin (TPO) and interleukin-11

Search NIH Clinical Center for Blood Platelet Disease

Cochrane evidence based reviews: blood platelet disorders

Genetic Tests for Blood Platelet Disease

Anatomical Context for Blood Platelet Disease

MalaCards organs/tissues related to Blood Platelet Disease:

42
Bone, Myeloid, Bone Marrow, Liver, Lung, Testes, Heart

Publications for Blood Platelet Disease

Articles related to Blood Platelet Disease:

(show top 50) (show all 61)
# Title Authors Year
1
Erratum: Quebec Platelet Disorder: Update on Pathogenesis, Diagnosis, and Treatment. ( 30641578 )
2019
2
Downregulation of TREM-like transcript (TLT)-1 and collagen receptor α2 subunit, two novel RUNX1-targets, contributes to platelet dysfunction in familial platelet disorder with predisposition to acute myelogenous leukemia. ( 30545930 )
2018
3
Deletion of RUNX1 exons 1 and 2 associated with familial platelet disorder with propensity to acute myeloid leukemia. ( 29666006 )
2018
4
Thrombopoietin levels in Quebec platelet disorder-Implications for the mechanism of thrombocytopenia. ( 29388746 )
2018
5
RUNX1 deficiency (familial platelet disorder with predisposition to myeloid leukemia, FPDMM). ( 28637620 )
2017
6
The duplication mutation of Quebec platelet disorder dysregulates PLAU, but not C10orf55, selectively increasing production of normal PLAU transcripts by megakaryocytes but not granulocytes. ( 28301587 )
2017
7
Epistaxis as a Common Presenting Symptom of Glanzmann's Thrombasthenia, a Rare Qualitative Platelet Disorder: Illustrative Case Examples. ( 28299211 )
2017
8
Whole exome sequencing identifies a mutation in thrombomodulin as the genetic cause of a suspected platelet disorder in a family with normal platelet function. ( 28267383 )
2017
9
Acquired TET2 mutation in one patient with familial platelet disorder with predisposition to AML led to the development of pre-leukaemic clone resulting in T2-ALL and AML-M0. ( 27997762 )
2017
10
Bone marrow pathologic abnormalities in familial platelet disorder with propensity for myeloid malignancy and germline RUNX1 mutation. ( 28659335 )
2017
11
Molecular phenotype and bleeding risks of an inherited platelet disorder in a family with a RUNX1 frameshift mutation. ( 28181366 )
2017
12
Somatic mutations associated with leukemic progression of familial platelet disorder with predisposition to acute myeloid leukemia. ( 26316320 )
2016
13
Genetic basis of myeloid transformation in familial platelet disorder/acute myeloid leukemia patients with haploinsufficient RUNX1 allele. ( 26849013 )
2016
14
Targeted gene correction of RUNX1 in induced pluripotent stem cells derived from familial platelet disorder with propensity to myeloid malignancy restores normal megakaryopoiesis. ( 26021490 )
2015
15
Congenital platelet disorder and type I von Willebrand disease presenting as prolonged bleeding after cleft lip and palate repair. ( 24237226 )
2014
16
Development of hairy cell leukemia in familial platelet disorder with predisposition to acute myeloid leukemia. ( 23971860 )
2014
17
Mechanisms underlying platelet function defect in a pedigree with familial platelet disorder with a predisposition to acute myelogenous leukemia: potential role for candidate RUNX1 targets. ( 24606315 )
2014
18
It is not always immune thrombocytopenia: a case of MYH9-related platelet disorder caused by a novel mutation. ( 23489225 )
2013
19
RUNX1, but not its familial platelet disorder mutants, synergistically activates PF4 gene expression in combination with ETS family proteins. ( 23848403 )
2013
20
CBL mutation in chronic myelomonocytic leukemia secondary to familial platelet disorder with propensity to develop acute myeloid leukemia (FPD/AML). ( 22138511 )
2012
21
Simultaneous measurement of adenosine triphosphate release and aggregation potentiates human platelet aggregation responses for some subjects, including persons with Quebec platelet disorder. ( 22234747 )
2012
22
Quebec platelet disorder. ( 21495923 )
2011
23
Quebec platelet disorder: update on pathogenesis, diagnosis, and treatment. ( 22102275 )
2011
24
Down-regulation of the RUNX1-target gene NR4A3 contributes to hematopoiesis deregulation in familial platelet disorder/acute myelogenous leukemia. ( 21725049 )
2011
25
Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene. ( 20007542 )
2010
26
Quebec platelet disorder. ( 20688024 )
2010
27
T cell acute lymphoblastic leukemia arising from familial platelet disorder. ( 20549580 )
2010
28
Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: clues for improved identification of the FPD/AML syndrome. ( 19946261 )
2010
29
A novel RUNX1 mutation in a kindred with familial platelet disorder with propensity to acute myeloid leukaemia: male predominance of affected individuals. ( 20722699 )
2010
30
Identification and molecular characterization of a novel 3′ mutation in RUNX1 in a family with familial platelet disorder. ( 20846103 )
2010
31
Quebec platelet disorder is linked to the urokinase plasminogen activator gene (PLAU) and increases expression of the linked allele in megakaryocytes. ( 18988861 )
2009
32
Increased expression of urokinase plasminogen activator in Quebec platelet disorder is linked to megakaryocyte differentiation. ( 19029443 )
2009
33
High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder. ( 19357396 )
2009
34
Quebec platelet disorder: features, pathogenesis and treatment. ( 18277131 )
2008
35
Evaluation of urokinase plasminogen activator in urine from individuals with Quebec platelet disorder. ( 18600101 )
2008
36
A novel RUNX1 mutation in familial platelet disorder with propensity to develop myeloid malignancies. ( 18166807 )
2008
37
Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy. ( 18723428 )
2008
38
Bernard-Soulier syndrome: an inherited platelet disorder. ( 18081445 )
2007
39
Proposed management of pregnancy and labour in an inherited platelet disorder, Glanzmann's thrombasthenia. ( 17654200 )
2007
40
Insights into abnormal hemostasis in the Quebec platelet disorder from analyses of clot lysis. ( 16689763 )
2006
41
Use of recombinant activated factor VII to control bleeding in a young child with qualitative platelet disorder: a case report. ( 16651876 )
2006
42
Case report: Glanzmann thrombasthenia. Dental patient management for a rare platelet disorder. ( 16320915 )
2005
43
Low Mpl receptor expression in a pedigree with familial platelet disorder with predisposition to acute myelogenous leukemia and a novel AML1 mutation. ( 15741216 )
2005
44
Bleeding risks associated with inheritance of the Quebec platelet disorder. ( 15026313 )
2004
45
The White platelet syndrome: a new autosomal dominant platelet disorder. ( 15203719 )
2004
46
Familial platelet disorder with propensity to acute myelogenous leukemia: genetic heterogeneity and progression to leukemia via acquisition of clonal chromosome anomalies. ( 15138996 )
2004
47
Anti-GPVI-associated ITP: an acquired platelet disorder caused by autoantibody-mediated clearance of the GPVI/FcRgamma-chain complex from the human platelet surface. ( 15150079 )
2004
48
Intracellular activation of the fibrinolytic cascade in the Quebec Platelet Disorder. ( 12888877 )
2003
49
In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis. ( 11830488 )
2002
50
Platelets from patients with the Quebec platelet disorder contain and secrete abnormal amounts of urokinase-type plasminogen activator. ( 11435291 )
2001

Variations for Blood Platelet Disease

Copy number variations for Blood Platelet Disease from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 45936 10 75328946 75329067 Duplication PLAU Platelet disorder

Expression for Blood Platelet Disease

Search GEO for disease gene expression data for Blood Platelet Disease.

Pathways for Blood Platelet Disease

Pathways related to Blood Platelet Disease according to GeneCards Suite gene sharing:

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.26 F10 F2 F2R F3 F8 GP1BA
2
Show member pathways
12.68 F10 F2 F3 F8 SERPINC1
3 12.5 F2 F2R ITGA2B ITGB3 MYH9
4
Show member pathways
12.21 GP1BA GP1BB GP5 GP9 ITGA2B ITGB3
5 12.14 F10 F2 F2R F3 F8 SERPINC1
6
Show member pathways
12.14 F10 F2 F2R F3 F8 GP1BA
7
Show member pathways
12.1 F2 ITGB3 PF4 SELP
8
Show member pathways
12.1 F2 F2R ITGA2B ITGB3 MYH9 PF4
9 12.04 GP1BA GP5 ITGA2B ITGB3 MPL THPO
10 12.02 F2R GP1BA GP1BB GP5 GP9 ITGA2B
11 11.96 GP1BA GP1BB GP5 GP9 ITGA2B ITGB3
12 11.69 F3 ITGB3 VWF
13
Show member pathways
11.65 F2 GP1BA GP1BB GP5 GP9 ITGA2B
14 11.49 GP9 ITGA2B ITGB3 RUNX1
15 10.93 F2 F2R GP1BB GP5 GP9 ITGA2B
16 10.92 GP1BA GP1BB GP5 GP9 VWF
17 10.77 GP1BA GP1BB GP5 GP9 VWF
18 10.75 F10 F2

GO Terms for Blood Platelet Disease

Cellular components related to Blood Platelet Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.85 ADAMTS13 F10 F2 F3 F8 GP1BA
2 collagen-containing extracellular matrix GO:0062023 9.78 F3 PF4 SERPINC1 VWF
3 endoplasmic reticulum lumen GO:0005788 9.72 ADAMTS13 F10 F2 F8 SERPINC1
4 platelet alpha granule lumen GO:0031093 9.63 F8 PF4 VWF
5 cell surface GO:0009986 9.5 ADAMTS13 F2R F3 GP1BA ITGA2B ITGB3
6 plasma membrane GO:0005886 9.5 F10 F2 F2R F3 F8 GP1BA
7 platelet alpha granule membrane GO:0031092 9.43 ITGA2B ITGB3 SELP
8 intrinsic component of external side of plasma membrane GO:0031233 9.4 F10 F3
9 extracellular region GO:0005576 10.07 ADAMTS13 F10 F2 F2R F3 F8
10 integral component of plasma membrane GO:0005887 10.03 F2R GP1BA GP1BB GP5 GP9 ITGB3

Biological processes related to Blood Platelet Disease according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 hemostasis GO:0007599 9.93 ADAMTS13 F10 F2 F2R F3 F8
2 platelet degranulation GO:0002576 9.91 F8 ITGA2B ITGB3 PF4 SELP VWF
3 cell surface receptor signaling pathway GO:0007166 9.88 F2 GP1BA GP1BB MPL
4 integrin-mediated signaling pathway GO:0007229 9.78 ADAMTS13 ITGA2B ITGB3 MYH9
5 cell-matrix adhesion GO:0007160 9.76 ADAMTS13 ITGA2B ITGB3
6 regulation of megakaryocyte differentiation GO:0045652 9.76 GP1BA ITGA2B PF4 RUNX1
7 response to wounding GO:0009611 9.72 F2 F2R VWF
8 platelet aggregation GO:0070527 9.72 GP1BA ITGA2B ITGB3 MPL MYH9
9 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.71 F2 F2R SELP
10 platelet activation GO:0030168 9.7 ADAMTS13 F2 F2R F8 GP1BA GP1BB
11 regulation of blood coagulation GO:0030193 9.67 F2 F2R GP1BA SERPINC1
12 cell-substrate adhesion GO:0031589 9.59 ITGB3 VWF
13 positive regulation of blood coagulation GO:0030194 9.57 F2 F2R
14 positive regulation of leukocyte migration GO:0002687 9.56 ITGA2B SELP
15 thrombin-activated receptor signaling pathway GO:0070493 9.52 F2R GP1BA
16 blood coagulation, extrinsic pathway GO:0007598 9.51 F10 F3
17 thrombopoietin-mediated signaling pathway GO:0038163 9.49 MPL THPO
18 blood coagulation, intrinsic pathway GO:0007597 9.17 F2 F8 GP1BA GP1BB GP5 GP9
19 blood coagulation GO:0007596 10.07 ADAMTS13 F10 F2 F2R F3 F8
20 cell adhesion GO:0007155 10.06 GP1BA GP1BB GP5 GP9 ITGA2B ITGB3

Molecular functions related to Blood Platelet Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.62 F2 PF4 SELP SERPINC1
2 protein binding GO:0005515 9.6 ADAMTS13 F10 F2 F2R F3 F8
3 integrin binding GO:0005178 9.46 ADAMTS13 ITGB3 MYH9 VWF
4 thrombin-activated receptor activity GO:0015057 9.37 F2R GP1BA
5 fibrinogen binding GO:0070051 9.26 ITGA2B ITGB3
6 protease binding GO:0002020 9.26 F3 ITGB3 SERPINC1 VWF

Sources for Blood Platelet Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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